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Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 2280 - 14
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia ( FA) is a rare disease characterized by bone... 
UBIQUITINATION | DAMAGE RESPONSE | CHROMATIN | CROSS-LINK REPAIR | HUMAN-CELLS | MULTIDISCIPLINARY SCIENCES | SENSITIVITY | HOMOLOGOUS RECOMBINATION | BRCA1 | ENRICHMENT ANALYSIS | ASSOCIATION | Genetic Therapy | Ubiquitin-Specific Proteases - genetics | Fanconi Anemia Complementation Group D2 Protein - genetics | Fanconi Anemia - metabolism | Humans | DNA Repair - physiology | DNA Repair - genetics | Fanconi Anemia Complementation Group C Protein - genetics | Fanconi Anemia Complementation Group A Protein - genetics | Fanconi Anemia Complementation Group D2 Protein - deficiency | Fanconi Anemia Complementation Group A Protein - metabolism | Fanconi Anemia Complementation Group Proteins - metabolism | Ubiquitination | Fanconi Anemia Complementation Group G Protein - genetics | Ubiquitin-Specific Proteases - deficiency | Fanconi Anemia Complementation Group G Protein - deficiency | BRCA1 Protein - metabolism | Fanconi Anemia - genetics | Ubiquitin-Specific Proteases - metabolism | Chromosomal Instability | Rad51 Recombinase - metabolism | Cell Line | Fanconi Anemia Complementation Group Proteins - deficiency | Fanconi Anemia Complementation Group Proteins - genetics | Fanconi Anemia Complementation Group G Protein - metabolism | Gene Knockout Techniques | Fanconi Anemia Complementation Group C Protein - metabolism | Fanconi Anemia Complementation Group D2 Protein - metabolism | Fanconi Anemia Complementation Group A Protein - deficiency | CRISPR-Cas Systems | Fanconi Anemia Complementation Group C Protein - deficiency | Fanconi Anemia - therapy | DNA Damage | Histones - metabolism | Mutation
Journal Article
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, ISSN 1520-4391, 2011, Volume 2011, pp. 492 - 497
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 2017, Volume 23, Issue 9, pp. 1422 - 1428
Abstract Patients with inherited bone marrow failure syndromes (IBMFS) such as Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia... 
Hematology, Oncology and Palliative Medicine | Late effects | Dyskeratosis congenita | Pediatric allogeneic hematopoietic cell transplant | Fanconi anemia | Diamond Blackfan anemia | Inherited bone marrow failure syndromes | LONG-TERM SURVIVORS | Pediatric allogeneic | 4 DECADES | NATIONAL-CANCER-INSTITUTE | IMMUNOLOGY | CHRONIC HEALTH CONDITIONS | BIALLELIC MUTATIONS | FANCONI-ANEMIA | TRANSPLANTATION | hematopoietic cell transplant | INSTITUTE/PEDIATRIC BLOOD | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | APLASTIC-ANEMIA | Bone Marrow Diseases - diagnosis | Humans | Anemia, Diamond-Blackfan - immunology | Hemoglobinuria, Paroxysmal - pathology | Anemia, Diamond-Blackfan - mortality | Dyskeratosis Congenita - mortality | Anemia, Aplastic - therapy | Fanconi Anemia - mortality | Transplantation, Homologous | Hemoglobinuria, Paroxysmal - immunology | Anemia, Aplastic - diagnosis | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Anemia, Diamond-Blackfan - therapy | Hemoglobinuria, Paroxysmal - diagnosis | Child | Anemia, Aplastic - pathology | Hematopoietic Stem Cell Transplantation | International Cooperation | Bone Marrow Diseases - pathology | Consensus Development Conferences as Topic | Anemia, Diamond-Blackfan - diagnosis | Consensus | Fanconi Anemia - diagnosis | Bone Marrow Diseases - immunology | Survival Analysis | Fanconi Anemia - immunology | Fanconi Anemia - therapy | Hemoglobinuria, Paroxysmal - therapy | Dyskeratosis Congenita - immunology | Anemia, Aplastic - immunology | Pediatrics | Conferences, meetings and seminars | Immunodeficiency | Bone marrow | Genetic aspects | Transplantation | Medical screening | Conferences and conventions | Hematopoietic stem cells | Fanconi's anemia | Medical research | Epidemiology | Diseases | Medicine, Experimental | Children | dyskeratosis congenita | pediatric allogeneic hematopoietic cell transplant | late effects | inherited bone marrow failure syndromes
Journal Article
Molecular Cell, ISSN 1097-2765, 01/2017, Volume 65, Issue 2, pp. 247 - 259
Monoubiquitination and deubiquitination of FANCD2:FANCI heterodimer is central to DNA repair in a pathway that is defective in the cancer predisposition... 
core complex | RING E3 | Fanconi anemia | FANCD2 | deubiquitination | FANCB | enzyme mechanism | monoubiquitination | DNA repair | NUCLEAR ACCUMULATION | MONOUBIQUITINATED FANCD2 | TARGETED DISRUPTION | COMPLEX | DNA-REPAIR PATHWAY | CROSS-LINK REPAIR | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEINS | DAMAGE | COMPLEMENTATION GROUP-B | LIGASE | CELL BIOLOGY | Fanconi Anemia Complementation Group D2 Protein - genetics | Fanconi Anemia - metabolism | Humans | Multiprotein Complexes | Protein Multimerization | Substrate Specificity | Fanconi Anemia Complementation Group A Protein - metabolism | DNA-Binding Proteins - metabolism | Fanconi Anemia Complementation Group Proteins - metabolism | Ubiquitination | Transfection | Time Factors | Fanconi Anemia - genetics | Ubiquitin-Specific Proteases - metabolism | Recombinant Proteins - metabolism | Cell Line | Fanconi Anemia Complementation Group Proteins - genetics | Nuclear Proteins - metabolism | Fanconi Anemia Complementation Group G Protein - metabolism | DNA - metabolism | Inhibitor of Differentiation Protein 2 - metabolism | DNA - genetics | Fanconi Anemia Complementation Group C Protein - metabolism | Fanconi Anemia Complementation Group D2 Protein - metabolism | Protein Binding | Fanconi Anemia Complementation Group L Protein - metabolism | Fanconi Anemia Complementation Group E Protein - metabolism | Ubiquitin | Chemotherapy | Ligases | Genomics | Research institutes | Cancer | Fanconi's anemia | Proteins | Medical research | Molecular genetics | Medicine, Experimental
Journal Article
British Journal of Haematology, ISSN 0007-1048, 05/2017, Volume 177, Issue 4, pp. 526 - 542
Summary The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may... 
Fanconi anaemia | Shwachman Diamond syndrome | dyskeratosis congenita | Diamond Blackfan anaemia | inherited bone marrow failure | HOYERAAL-HREIDARSSON-SYNDROME | ACUTE MYELOGENOUS LEUKEMIA | SOMATIC MOSAICISM | FANCONI-ANEMIA | C-MPL MUTATIONS | CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA | CROSS-LINK REPAIR | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | APLASTIC-ANEMIA | Exocrine Pancreatic Insufficiency - genetics | Bone Marrow Diseases - diagnosis | Humans | Exocrine Pancreatic Insufficiency - diagnosis | Dyskeratosis Congenita - genetics | Genetic Counseling | Neutropenia - congenital | Anemia, Aplastic - diagnosis | Neutropenia - diagnosis | Dyskeratosis Congenita - diagnosis | Fanconi Anemia - genetics | Genomics - methods | Hemoglobinuria, Paroxysmal - diagnosis | Neutropenia - genetics | Anemia, Aplastic - genetics | Telomere - genetics | Blood Platelet Disorders - genetics | Hemoglobinuria, Paroxysmal - genetics | Lipomatosis - genetics | Blood Platelet Disorders - diagnosis | Anemia, Diamond-Blackfan - diagnosis | Bone Marrow Diseases - genetics | Fanconi Anemia - diagnosis | Ribosomes - genetics | Anemia, Diamond-Blackfan - genetics | Lipomatosis - diagnosis | DNA Repair-Deficiency Disorders - genetics | Genetic research | Genomics | Fanconi's anemia | Dyskeratosis | Anemia | Diamonds | Disorders | Health risks | Cell lineage | Biology | Patients | Genetic screening | Gene sequencing | Pancytopenia | Bone marrow | Diagnostic systems | Genetic counselling | Cancer
Journal Article
Journal Article
2006, Medical intelligence unit (Unnumbered), ISBN 9780387319728, 121
Aims to give research students a platform for further investigation and act as a source of information regarding experimental design. This work contains... 
Fanconi Anemia | Genetic aspects | genetics | Molecular aspects | Fanconi's anemia | Medicine | Human Genetics | Molecular Medicine | Biomedicine | Immunology
Book
Current Biology, ISSN 0960-9822, 09/2017, Volume 27, Issue 18, pp. R986 - R988
Rodríguez and D’Andrea introduce the Fanconi anemia pathway and its role in DNA repair and other cellular functions. 
BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | DNA Replication | Fanconi Anemia Complementation Group Proteins - metabolism | Metabolic Networks and Pathways | Fanconi Anemia - metabolism | DNA Repair | Humans | Fanconi's anemia
Journal Article